← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-148814079-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148814079&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EZH2",
"hgnc_id": 3527,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Pro577Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_004456.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 24041,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Weaver syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1731,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004456.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Pro577Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320356.7",
"protein_coding": true,
"protein_id": "NP_004447.2",
"strand": false,
"transcript": "NM_004456.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1731,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000320356.7",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Pro577Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004456.5",
"protein_coding": true,
"protein_id": "ENSP00000320147.2",
"strand": false,
"transcript": "ENST00000320356.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 746,
"aa_ref": "P",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1716,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000460911.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Pro572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419711.1",
"strand": false,
"transcript": "ENST00000460911.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 707,
"aa_ref": "P",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000350995.6",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Pro533Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000223193.2",
"strand": false,
"transcript": "ENST00000350995.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 753,
"aa_ref": "P",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000893365.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Pro579Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563424.1",
"strand": false,
"transcript": "ENST00000893365.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1716,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000893367.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Pro572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563426.1",
"strand": false,
"transcript": "ENST00000893367.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1731,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931956.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Pro577Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602015.1",
"strand": false,
"transcript": "ENST00000931956.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 746,
"aa_ref": "P",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1716,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001203247.2",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Pro572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001190176.1",
"strand": false,
"transcript": "NM_001203247.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 746,
"aa_ref": "P",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1716,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931959.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Pro572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602018.1",
"strand": false,
"transcript": "ENST00000931959.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 746,
"aa_ref": "P",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1716,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931961.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Pro572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602020.1",
"strand": false,
"transcript": "ENST00000931961.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "P",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000893366.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Pro568Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563425.1",
"strand": false,
"transcript": "ENST00000893366.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 737,
"aa_ref": "P",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001203248.2",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Pro563Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001190177.1",
"strand": false,
"transcript": "NM_001203248.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 737,
"aa_ref": "P",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000483967.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Pro563Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419856.1",
"strand": false,
"transcript": "ENST00000483967.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 737,
"aa_ref": "P",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931958.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Pro563Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602017.1",
"strand": false,
"transcript": "ENST00000931958.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 714,
"aa_ref": "P",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931951.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1620G>A",
"hgvs_p": "p.Pro540Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602010.1",
"strand": false,
"transcript": "ENST00000931951.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 712,
"aa_ref": "P",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931950.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Pro538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602009.1",
"strand": false,
"transcript": "ENST00000931950.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 709,
"aa_ref": "P",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1605,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931957.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Pro535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602016.1",
"strand": false,
"transcript": "ENST00000931957.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 707,
"aa_ref": "P",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_152998.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Pro533Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694543.1",
"strand": false,
"transcript": "NM_152998.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 707,
"aa_ref": "P",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000893368.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Pro533Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563427.1",
"strand": false,
"transcript": "ENST00000893368.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 704,
"aa_ref": "P",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1590,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931954.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Pro530Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602013.1",
"strand": false,
"transcript": "ENST00000931954.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 703,
"aa_ref": "P",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1587,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931952.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Pro529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602011.1",
"strand": false,
"transcript": "ENST00000931952.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1572,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000893364.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Pro524Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563423.1",
"strand": false,
"transcript": "ENST00000893364.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001203249.2",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Pro521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001190178.1",
"strand": false,
"transcript": "NM_001203249.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000476773.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Pro521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419050.1",
"strand": false,
"transcript": "ENST00000476773.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000478654.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Pro521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417062.1",
"strand": false,
"transcript": "ENST00000478654.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931955.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Pro521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602014.1",
"strand": false,
"transcript": "ENST00000931955.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 693,
"aa_ref": "P",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000943026.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Pro519Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613085.1",
"strand": false,
"transcript": "ENST00000943026.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 668,
"aa_ref": "P",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1482,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931960.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Pro494Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602019.1",
"strand": false,
"transcript": "ENST00000931960.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 663,
"aa_ref": "P",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1467,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931953.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1467G>A",
"hgvs_p": "p.Pro489Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602012.1",
"strand": false,
"transcript": "ENST00000931953.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1755,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011515883.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1755G>A",
"hgvs_p": "p.Pro585Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514185.1",
"strand": false,
"transcript": "XM_011515883.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12402,
"cdna_start": 11614,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1755,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017011817.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1755G>A",
"hgvs_p": "p.Pro585Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867306.1",
"strand": false,
"transcript": "XM_017011817.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1755,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419989.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1755G>A",
"hgvs_p": "p.Pro585Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275945.1",
"strand": false,
"transcript": "XM_047419989.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "P",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 2084,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1740,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005249962.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Pro580Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250019.1",
"strand": false,
"transcript": "XM_005249962.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "P",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1740,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419990.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Pro580Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275946.1",
"strand": false,
"transcript": "XM_047419990.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1731,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419991.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Pro577Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275947.1",
"strand": false,
"transcript": "XM_047419991.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12375,
"cdna_start": 11587,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1728,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011515885.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1728G>A",
"hgvs_p": "p.Pro576Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514187.1",
"strand": false,
"transcript": "XM_011515885.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 746,
"aa_ref": "P",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1716,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419992.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Pro572Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275948.1",
"strand": false,
"transcript": "XM_047419992.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 745,
"aa_ref": "P",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12360,
"cdna_start": 11572,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1713,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005249963.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Pro571Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250020.1",
"strand": false,
"transcript": "XM_005249963.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 745,
"aa_ref": "P",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1713,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419993.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Pro571Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275949.1",
"strand": false,
"transcript": "XM_047419993.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 745,
"aa_ref": "P",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1713,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047419994.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Pro571Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275950.1",
"strand": false,
"transcript": "XM_047419994.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 743,
"aa_ref": "P",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419995.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1707G>A",
"hgvs_p": "p.Pro569Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275951.1",
"strand": false,
"transcript": "XM_047419995.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "P",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011515887.4",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Pro568Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514189.1",
"strand": false,
"transcript": "XM_011515887.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 738,
"aa_ref": "P",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419996.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1692G>A",
"hgvs_p": "p.Pro564Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275952.1",
"strand": false,
"transcript": "XM_047419996.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 737,
"aa_ref": "P",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419997.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Pro563Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275953.1",
"strand": false,
"transcript": "XM_047419997.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011515889.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1665G>A",
"hgvs_p": "p.Pro555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514191.1",
"strand": false,
"transcript": "XM_011515889.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12285,
"cdna_start": 11497,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1638,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515890.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1638G>A",
"hgvs_p": "p.Pro546Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514192.1",
"strand": false,
"transcript": "XM_011515890.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "P",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12276,
"cdna_start": 11488,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1629,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515892.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Pro543Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514194.1",
"strand": false,
"transcript": "XM_011515892.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 715,
"aa_ref": "P",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12270,
"cdna_start": 11482,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1623,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515893.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Pro541Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514195.1",
"strand": false,
"transcript": "XM_011515893.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 715,
"aa_ref": "P",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1623,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047419998.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Pro541Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275954.1",
"strand": false,
"transcript": "XM_047419998.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 712,
"aa_ref": "P",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515894.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Pro538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514196.1",
"strand": false,
"transcript": "XM_011515894.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 712,
"aa_ref": "P",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12261,
"cdna_start": 11473,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017011819.2",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Pro538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867308.1",
"strand": false,
"transcript": "XM_017011819.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12258,
"cdna_start": 11470,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1611,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515895.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1611G>A",
"hgvs_p": "p.Pro537Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514197.1",
"strand": false,
"transcript": "XM_011515895.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 709,
"aa_ref": "P",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1605,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047419999.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Pro535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275955.1",
"strand": false,
"transcript": "XM_047419999.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 706,
"aa_ref": "P",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12243,
"cdna_start": 11455,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1596,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047420000.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1596G>A",
"hgvs_p": "p.Pro532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275956.1",
"strand": false,
"transcript": "XM_047420000.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 704,
"aa_ref": "P",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1590,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047420001.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Pro530Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275957.1",
"strand": false,
"transcript": "XM_047420001.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 703,
"aa_ref": "P",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12234,
"cdna_start": 11446,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1587,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005249964.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Pro529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250021.1",
"strand": false,
"transcript": "XM_005249964.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 703,
"aa_ref": "P",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1587,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017011820.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Pro529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867309.1",
"strand": false,
"transcript": "XM_017011820.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1572,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047420002.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Pro524Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275958.1",
"strand": false,
"transcript": "XM_047420002.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 673,
"aa_ref": "P",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12144,
"cdna_start": 11356,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1497,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011515896.3",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1497G>A",
"hgvs_p": "p.Pro499Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514198.1",
"strand": false,
"transcript": "XM_011515896.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1473,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047420004.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1473G>A",
"hgvs_p": "p.Pro491Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275960.1",
"strand": false,
"transcript": "XM_047420004.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 642,
"aa_ref": "P",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1404,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047420005.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Pro468Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275961.1",
"strand": false,
"transcript": "XM_047420005.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 642,
"aa_ref": "P",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1404,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047420006.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.1404G>A",
"hgvs_p": "p.Pro468Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275962.1",
"strand": false,
"transcript": "XM_047420006.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11236,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011515901.4",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "c.*65G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514203.1",
"strand": false,
"transcript": "XM_011515901.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000492143.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*1721G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417377.1",
"strand": false,
"transcript": "ENST00000492143.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000682263.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.3631G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682317.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508286.1",
"strand": false,
"transcript": "ENST00000682317.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000683292.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*627G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507503.1",
"strand": false,
"transcript": "ENST00000683292.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000683293.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.3450G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683293.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683744.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506949.1",
"strand": false,
"transcript": "ENST00000683744.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000684300.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508407.1",
"strand": false,
"transcript": "ENST00000684300.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4502,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684400.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.2622G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000684400.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000684436.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.2047G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000684436.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684510.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.2109G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000684510.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000492143.5",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*1721G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417377.1",
"strand": false,
"transcript": "ENST00000492143.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682317.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508286.1",
"strand": false,
"transcript": "ENST00000682317.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000683292.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*627G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507503.1",
"strand": false,
"transcript": "ENST00000683292.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683744.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506949.1",
"strand": false,
"transcript": "ENST00000683744.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000684300.1",
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"hgvs_c": "n.*793G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508407.1",
"strand": false,
"transcript": "ENST00000684300.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs41277437",
"effect": "synonymous_variant",
"frequency_reference_population": 0.014894073,
"gene_hgnc_id": 3527,
"gene_symbol": "EZH2",
"gnomad_exomes_ac": 22436,
"gnomad_exomes_af": 0.0153475,
"gnomad_exomes_homalt": 210,
"gnomad_genomes_ac": 1605,
"gnomad_genomes_af": 0.010541,
"gnomad_genomes_homalt": 10,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 220,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Weaver syndrome|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.073,
"pos": 148814079,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004456.5"
}
]
}